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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

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第一作者: Kloeckner, Chiara
作者单位: Saxon Epilepsy Ctr Kleinwachau, Radeberg, Germany [1] Ludwig Maximilians Univ Munchen, LMU Univ Hosp, Dr Hauner Childrens Hosp, Dept Pediat Neurol & Dev [2] Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA [3] Univ British Columbia, Dept Pediat, Div Biochem Dis, Vancouver, BC, Canada [4] Univ Calif San Francisco, Dept Pathol, San Francisco, CA 94140 USA [5] Kaiser Permanente Washington, Dept Genet Serv, Seattle, WA USA [6] Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO 63110 USA [7] Friedrich Alexander Univ Erlangen Nurnberg, Inst Biochem, Erlangen, Germany [8] Skane Univ Hosp, Inst Clin Sci, Lund, Sweden [9] Univ Oklahoma, Hlth Sci Ctr, Dept Pediat, Sect Genet, Oklahoma City, OK 73190 USA [10] Helmholtz Zentrum Munich, Inst Neurogen, Neuherberg, Germany [11] Childrens Natl Hosp, Rare Dis Inst, Washington, DC USA [12] Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA [13] Univ Leipzig, Med Ctr, Inst Human Genet, Leipzig, Germany [14] Univ Oklahoma, Hlth Sci Ctr, Oklahoma City, OK USA [15] Univ Arkansas Med Sci, Dept Pediat, Sect Genet & Metab, Little Rock, AR 72205 USA [16] Columbia Univ, Dept Pediat, Med Ctr, New York, NY 10027 USA [17] Univ Calif San Francisco, Div Med Genet, San Francisco, CA 94143 USA [18] Univ Calif San Diego, Dept Neurosci, San Diego, CA 92103 USA [19] Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands [20] Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden [21] Cardiff Univ, Sch Med, Div Canc & Genet, Cardiff, S Glam, Wales [22] Duke Univ, Med Ctr, Dept Pediat, Div Pediat Neurol, Durham, NC 27710 USA [23] Columbia Univ, Inst Genom Med, New York, NY USA [24] Univ Collge London, Inst Child Hlth, London, England [25] NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 [26] Sorbonne Univ, Pitie Salpetriere Josp, AP HP, Inserm U1127 CNRS UMR 7225,Dept Genet,Paris Brain [27] GeneDx, Gaithersburg, MD USA [28] Sorbonne Univ, Grp Hosp Pitie Salpetriere, Ctr Reference Deficiences Intellectuelles Causes, Dept [29] Univ Amsterdam, Dept Clin Genet, Amsterdam UMC, Amsterdam, Netherlands [30] Univ Calif San Diego, Dept Pediat, Div Genet, San Diego, CA 92103 USA [31] CHU Lille, Hop Jeanne Flandre, Serv Genet Clin, Lille, France [32] Childrens Natl Hosp, Rare Dis Inst, Div Genet & Metab, Washington, DC USA [33] Univ Southern Denmark, Inst Reg Hlth Serv, Odense, Denmark [34] Chapel Allerton Hosp, Yorkshire Clin Genet Serv, Leeds, W Yorkshire, England [35] Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource, Cambridge Biomed Campus, Cambridge, England [36] Radboud Univ Nijmegen, Amalia Childrens Hosp, Nijmegen, Netherlands [37] Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, Paris, France [38] Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA [39] Univ Amsterdam, Med Ctr, Dept Child Neurol, Amsterdam, Netherlands [40]
发布时间 2021-12-19
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